Newborn gene sequencing: Do parents want it?

Do new parents really want genomic testing for their brand new babies?

A new study was the first was the first to explore new parents’ attitudes toward newborn genomic testing.

Heel sticks compared to newborn genomic testing

According to the BabySeq project, “Currently, all newborns receive a heel stick blood test shortly after birth in order to screen for 30 heritable, treatable conditions such as blood, endocrine, and metabolic disorders and other conditions prescribed by the state. This screening helps many children to avert a lifetime of battling disease and exorbitant healthcare costs. In comparison to this state-mandated, conventional newborn screening (cNBS), voluntary genomic newborn screening (gNBS) has the potential to be moBaby DNAre comprehensive, thus providing great clinical and personal utility to families and physicians, but also has the potential for tremendous ambiguity in the interpretation of results.”

As next-generation whole-exome and genome sequencing is integrated into clinical practice, researchers and clinicians are increasingly interested in genomic testing as a way to provide valuable personalized health information for newborns beyond what existing standard newborn genetic screening produces. But such testing, done shortly after birth, will require the interest and consent of new parents.

“Several other studies have measured parents’ interest in newborn genomic screening, but none focused on new parents in the first 48 hours,” said Robert C Green, MD, MPH, a geneticist and researcher at BWH and Harvard Medical School and senior author of the study. “Since this is when genomic testing would be of the greatest value, it is especially important to study parents’ attitudes immediately postpartum.”

Genetic testing all around!

The findings suggest that if newborn genomic testing becomes available, there would be robust interest among new parents — regardless of their demographic background.

The study, led by researchers at Brigham and Women’s Hospital (BWH) and Boston Children’s Hospital and published in Genetics in Medicine, found that the majority of parents surveyed were interested in newborn genomic testing.

The researchers surveyed 514 parents at the well baby nursery at BWH within 48 hours of their child’s birth. After receiving a brief orientation to the genome and its impacts on human health, 82.7 percent of parents reported being somewhat (36 percent), very, (28 percent) or extremely (18 percent) interested in newborn genomic testing. Results were similar regardless of parents’ age, gender, race, ethnicity, level of education, family history of genetic disease, or whether or not the infant was a first-born child. Parents who had experienced concerns about the health of their newborn, however, were less likely to be interested in genomic testing.

The study was also the first to investigate whether asking parents about their interest in newborn genomic testing would cause them to reject existing, state-mandated newborn genetic screening (NBS), one of the most established and successful public health programs in the world.

“If even one parent had rejected it, that would have been a problem,” said Susan Waisbren, PhD, lead author of the study and a psychologist and researcher in the Division of Genetics and Genomics at Boston Children’s and Harvard Medical School. “But out of over 500 parents surveyed, not one of them questioned or rejected NBS.”

The study was also the first to survey parents separately. Most couples were in agreement about their level of interest in newborn genomic testing.

“About 75 percent of couples were in concordance,” Waisbren said. “This suggests that both parents should be involved when we are addressing concerns they may have about newborn genomic testing.”

“Parents’ strong interest in genomic screening for their newborns, as demonstrated by this study, underscores the importance of further research exploring the public health impacts of actually providing this testing,” said Green, “particularly as it continues to become less expensive and more widely available.”

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About this story

This article is by The Myria Editors, and was posted or last updated on December 8, 2014

Based on/Source: This article was written by Lily Hoffman-Andrews and Lori Schroth, Brigham and Women's Hospital Communications. Green and Alan Beggs, PhD, of Boston Children's co-direct the BabySeq Project in which, pending IRB review and approval, parents of several hundred healthy and sick newborn infants will be offered genomic sequencing in a research setting beginning in early 2015. This research was funded by Brigham and Women's Biomedical Research Institute seed funding, the Galactosemia Foundation (S.E.W.), the National PKU Alliance (S.E.W.), and National Institutes of Health grants HD077671, HG006500, HG005092, and HG006615.

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